Canonical Allele Identifier: CA2362502
Community Standard Title: NM_014159.7(SETD2):c.7355C>T (p.Ser2452Leu)
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47019836G>A , CM000665.2:g.47019836G>A GRCh38
NC_000003.11:g.47061326G>A , CM000665.1:g.47061326G>A GRCh37
NC_000003.10:g.47036330G>A NCBI36
NG_032091.1:g.149142C>T , LRG_775:g.149142C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014159.7:c.7355C>T MANE Select NP_054878.5:p.Ser2452Leu
ENST00000409792.4:c.7355C>T MANE Select ENSP00000386759.3:p.Ser2452Leu
NM_001349370.1:c.7223C>T NP_001336299.1:p.Ser2408Leu
NM_001349370.2:c.7223C>T NP_001336299.1:p.Ser2408Leu
NM_001349370.3:c.7223C>T NP_001336299.1:p.Ser2408Leu
NM_014159.6:c.7355C>T , LRG_775t1:c.7355C>T NP_054878.5:p.Ser2452Leu
NR_146158.1:n.7576C>T
NR_146158.2:n.7712C>T
NR_146158.3:n.7712C>T
ENST00000330022.11:c.7175C>T
ENST00000409792.3:c.7355C>T ENSP00000386759.3:p.Ser2452Leu
ENST00000431180.5:c.6551C>T
ENST00000445387.5:c.6331C>T
ENST00000638947.2:c.7223C>T ENSP00000491413.2:p.Ser2408Leu
ENST00000685005.1:c.7121C>T ENSP00000509568.1:p.Ser2374Leu
ENST00000685237.1:n.4164C>T
ENST00000685505.1:c.5679C>T
ENST00000686773.1:c.5518C>T
ENST00000686792.1:n.1577C>T
ENST00000686876.1:c.4071C>T
ENST00000687657.1:n.1574C>T
ENST00000688290.1:c.5194C>T
ENST00000690157.1:c.3708C>T
ENST00000690461.1:c.5643C>T ENSP00000509352.1:n.5643C>T
ENST00000691544.1:c.2411C>T ENSP00000510710.1:p.Ser804Leu
ENST00000691902.1:c.3150C>T
ENST00000692362.1:n.3284C>T
ENST00000692883.1:c.5760C>T
ENST00000693321.1:c.5614C>T
ENST00000693738.1:n.2796C>T
XM_011533631.1:c.7433C>T XP_011531933.1:p.Ser2478Leu
XM_011533632.1:c.7379C>T XP_011531934.1:p.Ser2460Leu
XM_011533632.3:c.7379C>T XP_011531934.1:p.Ser2460Leu
XM_011533633.1:c.7298C>T XP_011531935.1:p.Ser2433Leu
XM_011533634.1:c.7223C>T XP_011531936.1:p.Ser2408Leu
XM_024453487.1:c.7088C>T XP_024309255.1:p.Ser2363Leu
XM_024453488.1:c.6923C>T XP_024309256.1:p.Ser2308Leu
XR_001740131.2:n.7391C>T
XR_002959510.1:n.7408C>T
XR_002959511.1:n.7567C>T
XR_002959512.1:n.7667C>T
XR_002959513.1:n.7501C>T
XR_002959515.1:n.7532C>T
XR_940418.1:n.7572C>T